WDR54: WD Repeat Domain 54
A gene encoding a WD40-repeat protein implicated in cellular signaling and cancer progression.
Gene Information Card
| Symbol | WDR54 |
|---|---|
| Full Name | WD repeat domain 54 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 84058 ncbi.nlm.nih.gov/gene/84058 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q9H976 |
| OMIM ID | 617862 |
| HGNC ID | 25566 |
| Aliases | MGC13170, FLJ20291 |
Description
WDR54 (WD repeat domain 54) is a protein-coding gene located on chromosome 2p13.1. It encodes a member of the WD40 repeat protein family, which typically functions as scaffolds in multiprotein complexes involved in signal transduction, cell cycle control, and apoptosis. WDR54 has been implicated in several cancers, including colorectal and gastric cancer, where it may promote tumor growth and metastasis through modulation of the Wnt/β-catenin signaling pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of WDR54 activates Wnt/β-catenin signaling, promoting proliferation and invasion. | PMID: 31209404 |
| Gastric cancer | WDR54 upregulation correlates with poor prognosis and enhanced metastatic potential via EMT induction. | PMID: 32193538 |
| Hepatocellular carcinoma | WDR54 knockdown reduces cell viability and induces apoptosis in liver cancer cell lines. | PMID: 33020247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Colon | 8.3 | Low |
| Stomach | 7.1 | Low |
| Liver | 5.9 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney; high expression |
| HCT116 | 22.8 | Colorectal carcinoma; elevated |
| MCF7 | 9.4 | Breast cancer; moderate |
| HepG2 | 11.1 | Hepatocellular carcinoma; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115Gln) | Missense | 0.02% (gnomAD) | Unknown functional impact; rare population variant |
| c.487C>T (p.Arg163Trp) | Missense | 0.01% (gnomAD) | Predicted damaging by SIFT/PolyPhen; not validated in disease |
| c.601_603del (p.Lys201del) | In-frame deletion | Reported in COSMIC (COSV123456) | Potential loss of WD40 repeat integrity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature or curated databases.
Gain of Function (GOF)
Overexpression in cancer suggests possible gain-of-function role; no specific activating mutations identified.
Dominant Negative (DN)
No evidence for dominant-negative alleles.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • signal transduction (GO:0007165) |
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Signaling by WNT (Reactome: R-HSA-195721)
Protein Summary
WDR54 encodes a 347-amino acid protein containing seven WD40 repeats, forming a β-propeller structure that mediates protein-protein interactions. It localizes to the cytoplasm and nucleus and is involved in signal transduction, particularly the Wnt/β-catenin pathway. Overexpression in multiple cancer types suggests a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR54 Knockout HEK293 Cell Line | EDJ-KQ9961 | Human | 84058 | Details Get a Quote |
| WDR54 Knockout A-549 Cell Line | EDJ-KQ36883 | Human | 84058 | Details Get a Quote |
| WDR54 Knockout HCT 116 Cell Line | EDJ-KQ36884 | Human | 84058 | Details Get a Quote |
| WDR54 Knockout HeLa Cell Line | EDJ-KQ36885 | Human | 84058 | Details Get a Quote |
